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rs33991472

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33991472(C;G)
Make rs33991472(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position5226716
GeneHBB
is asnp
is mentioned by
dbSNPrs33991472
ebirs33991472
HLIrs33991472
Exacrs33991472
Varsomers33991472
Maprs33991472
PheGenIrs33991472
hapmaprs33991472
1000 genomesrs33991472
hgdprs33991472
ensemblrs33991472
gopubmedrs33991472
geneviewrs33991472
scholarrs33991472
googlers33991472
pharmgkbrs33991472
gwascentralrs33991472
openSNPrs33991472
23andMers33991472
23andMe allrs33991472
SNP Nexus

SNPshotrs33991472
SNPdbers33991472
MSV3drs33991472
GWAS Ctlgrs33991472
Max Magnitude0
OMIM141900
Desc
Variant0040
Relatedalso
OMIM141900
Desc
Variant0308
Relatedalso


ClinVar
Risk rs33991472(A,G;A,G)
Alt rs33991472(A,G;A,G)
Reference rs33991472(C;C)
Significance Other
Disease Hemoglobinopathy HEMOGLOBIN ZIGUINCHOR
Variation info
Gene HBB
CLNDBN Hemoglobinopathy HEMOGLOBIN ZIGUINCHOR
Reversed 1
HGVS NC_000011.9:g.5247946G>C
CLNSRC HBVAR OMIM Allelic Variant
CLNACC RCV000016651.3, RCV000030905.3,



[PMID 5684629] Haemoglobin Dhofar--a new variant from Southern Arabia.


[PMID 7786794] Haemoglobin Dhofar is linked to the codon 29 C-->T (IVS-1 nt-3) splice mutation which causes beta+ thalassaemia.